Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969782G>A , CM000668.2:g.31969782G>A | GRCh38 |
| NC_000006.11:g.31937559G>A , CM000668.1:g.31937559G>A | GRCh37 |
| NC_000006.10:g.32045538G>A | NCBI36 |
| NG_032652.1:g.15979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2856G>A | ENSP00000419905.1:n.*2856G>A | |
| XR_926301.3:n.3824G>A |